Down syndrome with microgranular variant of acute promyelocytic leukemia in a child: a case report

Tejinder Singh,Deepali Jain,Prerna Arora

doi:10.1186/1752-1947-1-147

Tejinder Singh, Deepali Jain + Show 1 more

Open Access

https://doi.org/10.1186/1752-1947-1-147

Copy DOI

Abstract

BackgroundAcute promyelocytic leukemia (APL) accounts for less than 10% of pediatric AML. Cases of APL in Down syndrome (DS) have been described in the literature rarely and it is rarer still to find the microgranular variant (M3v) of APL in trisomy 21 patients.Case presentationWe present a case of a five-year-old female with Down syndrome diagnosed with acute promyelocytic leukemia (APL). She came to our hospital with bleeding manifestations. Blood and bone marrow examination revealed promyelocytes showing a few fine granules and occasional Auer rods. Based on this morphology and cytochemistry, a diagnosis of APL microgranular variant (M3v) was made.ConclusionThis case report emphasizes the importance of a high index of suspicion in the diagnosis of acute promyelocytic leukemia microgranular variant in Down syndrome.

Highlights

This case report emphasizes the importance of a high index of suspicion in the diagnosis of acute promyelocytic leukemia microgranular variant in Down syndrome
Trisomy 21 is associated with a 15-fold increased risk of acute leukemia, with Acute myeloid leukemia (AML) occurring three times more frequently than acute lymphoblastic leukemia (ALL) in the first 3 years of life
A bone marrow aspirate and biopsy was performed with the following differential: 70% promyelocytes which had a morphology similar to those seen in the peripheral blood; 23% blasts; 5% myelocytes; and 2% lymphocytes

Summary

Introduction

Acute myeloid leukemia (AML) comprises approximately one-fifth of pediatric leukemias [1]; and acute promyelocytic leukemia (APL) accounts for less than 10% of pediatric AML [2]. Conclusion: This case report emphasizes the importance of a high index of suspicion in the diagnosis of acute promyelocytic leukemia microgranular variant in Down syndrome. Though cases of APL in DS have been described in the medical literature rarely, it is rarer still to find the microgranular variant (M3v) of APL in trisomy 21 patients [4]. We describe a case of a five year old child with DS who presented with bleeding and was diagnosed as APL (M3v).

Results

Conclusion